Varaico: Literature-Extracted Genetic Variants

HMGCR

454 papers

RefSeq Summary

HMG-CoA reductase is the rate-limiting enzyme for cholesterol synthesis and is regulated via a negative feedback mechanism mediated by sterols and non-sterol metabolites derived from mevalonate, the p...

Pfam Domains

Sterol-sensingaa 85–235UCSCSterol-sensing domain of SREBP cleavage-activation

HMG-CoA_redaa 491–871UCSCHydroxymethylglutaryl-coenzyme A reductase

Gene Aliases

HGNC Name

3-hydroxy-3-methylglutaryl-CoA reductase

HGNC Previous Name

3-hydroxy-3-methylglutaryl-Coenzyme A reductase

Papers

RefSeq ID

Protein change

DNA change

1–12 of 355 variants

15 papers

NM_000859.3

p.V174A

c.521T>C

12 papers

NM_000859.3

p.I638V

c.1912A>G

7 papers

NM_000859.3

p.Y311S

c.932A>C

6 papers

NM_000859.3

p.K89R

c.266A>G

6 papers

NM_000859.3

p.K248R

c.743A>G

5 papers

NM_000859.3

p.A124A

c.372T>C

4 papers

NM_000859.3

p.W233*

c.699G>A

4 papers

NM_000859.3

p.S508del1

c.1522_1523delTCT

4 papers

NM_000859.3

p.G574_L575Splc

c.1722+45A>G

3 papers

NM_000859.3

p.R159C

c.475C>T

3 papers

NM_000859.3

p.N204S

c.611A>G

3 papers

NM_000859.3

p.E228K

c.682G>A